Editor's Summary
1 May 2008
Pieces of eight genomes
Clone-based sequencing of the genomes of eight unrelated individuals — four African and four non-African — has been used to build a picture of human genetic variation. The study concentrated on intermediate-scale variations a few thousand to a few million base pairs long. The results confirm the finding that African genomes are more diverse than other groups, and suggest that previous estimates of the incidence of 'copy-number variant' base pairs have been too high. The data suggest that, despite recent evidence to the contrary, non-allelic homologous recombination is the dominant process in promoting structural variation in the genome. Studies of this type provide benchmarks for the many genome sequences that will be generated by next-generation technologies.
Authors: Making the paper: Evan Eichler
Genome match maps new regions of human genetic structural variation.
doi:10.1038/7191xiia
Article: Mapping and sequencing of structural variation from eight human genomes
Jeffrey M. Kidd, Gregory M. Cooper, William F. Donahue, Hillary S. Hayden, Nick Sampas, Tina Graves, Nancy Hansen, Brian Teague, Can Alkan, Francesca Antonacci, Eric Haugen, Troy Zerr, N. Alice Yamada, Peter Tsang, Tera L. Newman, Eray Tüzün, Ze Cheng, Heather M. Ebling, Nadeem Tusneem, Robert David, Will Gillett, Karen A. Phelps, Molly Weaver, David Saranga, Adrianne Brand, Wei Tao, Erik Gustafson, Kevin McKernan, Lin Chen, Maika Malig, Joshua D. Smith, Joshua M. Korn, Steven A. McCarroll, David A. Altshuler, Daniel A. Peiffer, Michael Dorschner, John Stamatoyannopoulos, David Schwartz, Deborah A. Nickerson, James C. Mullikin, Richard K. Wilson, Laurakay Bruhn, Maynard V. Olson, Rajinder Kaul, Douglas R. Smith & Evan E. Eichler
doi:10.1038/nature06862
Abstract | Full Text | PDF (716K) | Supplementary information